C47Y (p.Cys47Tyr) variant of ID3 (Q02535)
C47Y (p.Cys47Tyr) in ID3 (Q02535) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data and structural context.
C47Y (p.Cys47Tyr) variant details
- p.Cys47Tyr
- ESP rs367596122
- TOPMed rs367596122
- gnomAD rs367596122
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.94
- MetaLR 0.95
- MetaSVM 1.09
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available